R70W (p.Arg70Trp) variant of ADNP (Q9H2P0)
R70W (p.Arg70Trp) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
R70W (p.Arg70Trp) variant details
- p.Arg70Trp
- rs2122765532
- ClinGen CA408979935
- cosmic curated COSV62426
- ClinVar RCV001531967
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available